Joubert syndrome
Joubert's syndrome, Cerebello-oculo-renal syndromes (CORs)
Joubert syndrome (JS) is an autosomal recessive developmental brain condition characterized by hypoplasia/dysplasia of the cerebellar vermis and by ataxia, hypotonia, oculomotor apraxia, and neonatal breathing dysregulation.
Variants
association of JS with retinal dysplasia and nephronophthisis ("JS type B" or "cerebello-oculo-renal syndrome" (CORS)).
JBTS3: JS with cortical polymicrogyria (AHI1 mutations)
Loci
Joubert syndrome 1 (JBTS1) locus: 9q34
CORS1: NPHP1 Gene Deletion at 2q13 (also mutated in juvenile nephronophtisis) (#15138899#)
CORS2 Locus: 11p12-q13.3 (#12908130#)
JBTS3: AHI1 germline mutations in JS with cortical polymicrogyria
References
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